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Marfan Syndrome
Symptoms / Diagnosis People with this disorder are usually tall and lanky with unproportionally long arms. When stretched out, their armspan is much greater than their height. Spider-like fingers are common. This is called arachnodactyly. Other commons symptoms include: *Coloboma of iris *Flat feet *Funnel chest (pectus excavatum) or pigeon breast (pectus carinatum) *Highly arched palate and crowded teeth *Hypotonia *Learning disability *Movement of the lens of the eye from its normal position (dislocation) *Nearsightedness *Scoliosis *Small lower jaw (micrognathia) *Thin, narrow face Doctors will perform different tests to determine if a patient has this syndrome. A physical exam of someone who has this condition may have a collapsed lung, aneurysm, or heart valve problems. An eye exam may show defects of the lens or cornea, retinal detachment, and vision problems. An echocardiogram is usually performed once a year to look at the base of the aorta to make sure it is functioning well. Prognosis Heart related problems are usually the most life-threatening with this disease. However, if the syndrome is identified early, most patients live well into their 60's or beyond. Frequency Marfan Syndrone occurs in 1 in 10,000 people, but it may be as prevalent as 1 in 3,000 - 5,000. Estimates say that at least 200,000 people in the United States have Marfan syndrome or a related connective-tissue disorder. This makes it the most prevalent single-gene malformation syndrome. Method of Inheritance Studies have shown that this syndrome is passed through a recessie autosomal mutation in the fibrillin-1 (FBN1) gene on chromosome 15, which encodes for the glycoprotein fibrillin. This has been shown by a study where two sisters had the syndrome, but both parents and all four grandparents did not show signs of the disease. Treatments Vision problems should be taken care of as soon as possible. Correct posture and a concious mind can lower the risk of developing scoliosis. Since heart related problems are the most deadly with this disorder, protecting the heart is important. not playing contact sports and avoiding ecessive aerobic activity can help protect the heart. Drugs to slow the heart rate can also lower stress on this vital muscle. In extreme cases, surgery to replace the aortic root and valve may be necessary. Pregnant woman should be monitored even more closely due to added strain on the heart and aorta. Famous People One famous person in history that all people in America know is Abe Lincoln. This has not been a definite diagnosis, but many believe this is what he suffered with through his life because of the fact that he was much taller than most men of his day, had long limbs, had an abnormally-shaped chest (sunken in), and that he had loose (lax) joints (based on written descriptions). Related Diseases and Syndromes Bicuspid aortic valve with aortic vasodilation Congenital Contractural Arachnodactyly (CCA) or Beals Syndrome Cystic medial degeneration Ehlers-Danlos syndrome Familial aortic aneurysm Familial ectopia lentis (dislocated lens) Gigantism (or a Marfan body type) Homecysinuria Loeyz-Dietz Syndrome Mitral-Valve Prolapse Shprintzen-Goldberg Syndrome Stickler Syndrome Category:Citations